PRESENTED BY:INUSAH ADAMS

(Ternopil State Medical Univ.)30/11/13

SICKLE CELL ANEMIA

PLAN OF PRESENTATIONDEFINITIONEPIDEMIOLOGYETIOLOGYPATHOPHYSIOLOGYSIGNS &SYMPTOMSSYNDROMES DIAGNOSIS/INVESTIGATIONSDIFFERENTIALSTREATMENTCOMPLICATIONSPROGNOSIS

Question 20 year old male patient was rushed into your office on account of severe pain both lower limbs and knee joints. On examination the patient is clinically jaundiced with a temperature of 380C What essential laboratory test would you

request immediately? Name two probable diagnoses What treatment would you initiate to

help this patient? Mention three pathophysiological

processes which could cause pain in such patients.

What is sickle cell disease/anemia?It is a severe hereditary form of anaemia in which a mutated form of hemoglobin distorts the red blood cells into a crescent shape at low oxygen levels.It is an autosomal recessive form of inheritance

Epidemiology of sickle cell disease Incidence: 6 to 9 million infants are born each year with sickle cell

disease in Africa Sickle cell disease occurs 1 in 600 African-American infants 1 in 12 people in Africa have sickle cell trait Prevalence (race) Highest in African, African-American, Mediterranean

(Italian, Sicilian, Greek), Middle Eastern, East Indian, Caribbean, and Central or South American descent

Age Affected patients characteristically are asymptomatic until

approximately 4 to 6 months of age Median age at death is approximately 42 years for men

and 48 years for womenSex: Ratio of male to female is 1:1

What is the etiology of sickle cell disease?

Gene mutationsubstitution of valine for glutamic acid in position 6 of the β-globin chain of Hb.

HbAA- normal personHbAS- sickle cell trait (they have a normal

life span)HbSS- sickle cell disease/anemia

Pathology con’t

Factor that provoke sickle cell crisisInfections (malaria)

Sudden temperature changesDehydrationExtreme activity

Inheritance pattern(autosomal recessive)

.

What is the pathophysiology of sickle cell disease?

Low oxygen tensiona. Acidosisb. Dehydrationc. Infectionsd. Changes in temperaturePolymerization (clumping) of HbSickling of RBCs causing obstruction of

blood vessels (vaso-occlussive crisis)Ischemia (low O2 to tissues)Infarction and tissue necrosisTissue death

Pathophysiology of SCD

What is the clinical presentation of SCD?

Signs of Anemia (pallor then later jaundice)Episodes of pain in chest, abdomen, joints and

bones.Dactylitits (hand-foot syndrome): Swelling in

the hands or feet, painfulChronic leg ulcers (lateral malleoli)Delayed growthPoor vision (infarction of retina)Splenomegaly then autosplenectomy by age

4yrsFrequent infections caused by encapsulated

bacteria (strep. Pneumoniae, Neisseria meningitides, H. influenza virus, klebsiella)

priapism

What are the syndromes of SCD?

Vaso-occlusive crisis (pain syndrome)

Splenic sequestration (congestion) crisis

Aplastic crisis (anemia syndrome)

Hemolytic crisis (the life span of sickled RBC is 20days, jaundice syndrome)

Diagnosis of SCD?CBC: low Hb, low RBC, reticulocytosis, high ESRBiochemical blood test: high unconjugated

bilirubin, low haptoglobin, high LDHSickling test: sickle cell shaped RBCsHb electrophoresisLiver function testBlood film for malaria parasitesECGSerological blood test to detect infection Abdominal ultrasound may reveal splenomegaly

in infants or autosplenomegaly in older children

Peripheral blood smear(Normal Vs. Sickle Red Cells)

Differential diagnosis of SCD?

DISEASE PRESENTATIONS/INVESTIGATIONS

1. G6PD deficiency X-link recessive, Heinz bodies can be seen in red blood cells on a blood film;

2. Acute pancreatitis (acute abdomen)

Epigastric pain, high amylase and lipaseHigh diastase activity

3. Osteomyelitis Persistent pain localized to one area, especially in a febrile patient, suggests the possibility of osteomyelitis.

4. Gout Swelling and painful big toe, high uric acid in blood, urate crystal in joints

Blood smear of G6PDD and SCD .

Hand-foot syndrome gout

Can we treat SCD? No cure Rehydration therapy (N/S) Analgesics NSAIDs Narcotics Hydroxyurea (it increases production of HbF)10mg/kg/day Folic acid supplements Treatment of infections (antibiotics, antimalarial) Oxygen Blood transfusion if aplastic anemia develops Warmth Other adjuvant medications (sedatives, anxiolytics)

May increase efficacy of analgesics

Prevention of SCD/crisisGenetic screening and counseling Prevention of infectionsAvoiding high altitude placesAvoid extreme activity (physical

overexertion, stress)Have sufficient rest, warmth, and

increased fluid intake. Vaccination against encapsulated bacteriaAvoid extreme changes in temperatureAvoid smoking and alcoholismFrequent check ups every 3-6mths

Possible complications of SCD?Congestive heart failure (most common

cause of death in SCD)DactylitisAvascular necrosis of hip or shoulderPulmonary hypertensionOsteomyelitis caused by salmonellaStrokeRetinopathy Splenic sequestration and

autosplenomegaly Aplastic anemiaPriapismLeg ulcers

Complications due to treatment

Narcotic dependence Iron overload (hemochromatosis)

from chronic transfusionsPeptic ulcer from NSAIDs usage

Prognosis of SCD?Patients who have 3 vaso-

occlusive crisis three times a year die by age 35

Patients with fewer crisis die at in their 50s

Case history (Pasco) 20 year old male patient was rushed into your office on account of severe pain both lower limbs and knee joints. On examination the patient is clinically jaundiced with a temperature of 380CWhat essential laboratory test would you

request immediately?Name two probable diagnosesWhat treatment would you initiate to

help this patient?Mention three pathophysiological

processes which could cause pain in such patients.

What essential laboratory test would you request immediately?

FBCSickling testHemoglobin electrophoresisG6PDClotting profileBlood films for malaria parasitesLFTs

Name two probable diagnoses

Sickle Cell DiseaseG6PD deficiency Malaria

What treatment would you initiate to help this patient?

IV fluids for hydrationSupplemental oxygenAnalgesia Look for and treat any infection

Mention three pathophysiological processes which could cause pain

in such patients.

Vaso-occlusive crisis Sequestration crisisHemolytic crisisAplastic Crisis